Page last updated: 2024-08-17

galactose and Glycogenosis

galactose has been researched along with Glycogenosis in 54 studies

Research

Studies (54)

TimeframeStudies, this research(%)All Research%
pre-199043 (79.63)18.7374
1990's2 (3.70)18.2507
2000's2 (3.70)29.6817
2010's5 (9.26)24.3611
2020's2 (3.70)2.80

Authors

AuthorsStudies
Altassan, R; Barone, R; Brasil, S; Cechova, A; Coman, D; Donoghue, S; Edmondson, AC; Falkenstein, K; Ferreira, C; Ferreira, V; Fiumara, A; Francisco, R; Freeze, H; Grunewald, S; Honzik, T; Jaeken, J; Krasnewich, D; Lam, C; Lee, J; Lefeber, D; Marques-da-Silva, D; Morava, E; Pascoal, C; Quelhas, D; Radenkovic, S; Raymond, KM; Rymen, D; Seroczynska, M; Serrano, M; Sykut-Cegielska, J; Thiel, C; Tort, F; Vals, MA; Videira, P; Voermans, N; Witters, P1
Gavrilov, D; Liedtke, K; Matern, D; Morava, E; Oglesbee, D; Perales-Clemente, E; Radenkovic, S; Raymond, K; Rinaldo, P; Studinski, A; Tortorelli, S1
Abu Bakar, N; Ackermann, AM; Bowling, F; Crivelly, K; Emmerzaal, T; Foulquier, F; Gadomski, T; Gibson, KM; Hansikova, H; He, M; Hertecant, J; Holmefjord, KSB; Honzik, T; Jaeken, J; Koch, D; Kozicz, T; Lefeber, DJ; Morava, E; Mork, M; Nguyen, DD; Peeters, N; Perez, S; Poschet, G; Preston, G; Raymond, K; Sykut-Cegielska, J; Thiel, C; van Scherpenzeel, M; Wong, SY1
Abu Bakar, N; Bowling, F; Crushell, E; Hansikova, H; Janssen, MCH; Lefeber, DJ; Marquardt, T; Morava, E; MØrkrid, L; Sykut-Cegielska, J; Thiel, C; van Scherpenzeel, M; Vissing, J; Voermans, NC1
Adamowicz, M; Aumaître, O; Burda, P; Callewaert, N; Czarnowska, E; de Meirleir, L; Debus, V; DeClue, T; Ficicioglu, C; Fingerhut, R; Freeze, HH; He, P; Huijben, K; Ichikawa, M; Jaeken, J; Laforêt, P; Lammens, M; Lefeber, DJ; Losfeld, ME; Marquardt, T; Matalon, R; Matthijs, G; Morava, E; Ng, BG; Petit, F; Piraud, M; Podskarbi, T; Raymond, K; Reunert, J; Rust, S; Rymen, D; Schrapers, E; Seyyedi, S; Sharma, V; Shin, YS; Socha, P; Stanley, CA; Stojkovic, T; Sykut-Cegielska, J; Tegtmeyer, LC; Timal, S; Vajro, P; van Schaftingen, E; van Scherpenzeel, M; van Spronsen, F; Vanderschaeghe, D; Veltman, J; Wada, Y; Wevers, RA; Witten, A1
Abu Bakar, N; Conte, F; Janssen, MC; Kusters, B; Lamberti, VM; Lefeber, DJ; Madsen, KL; Nusman, F; Preisler, N; van Engelen, BG; van Scherpenzeel, M; Vissing, J; Voermans, NC1
Hoffmann, B; Mayatepek, E; Meissner, T1
CRAIG, JM; GELLIS, SS; HSIA, DY1
ASHMORE, J; RENOLD, AE; SCHWARTZ, R1
DURAND, P1
DOBRZANSKA, A1
GRASSI, A; TORCIGLIANI, A1
HUIJING, F2
FERNANDES, J; VAN DE KAMER, JH2
LEAHY, M; LOWE, CU; SAKS, GL; SOKAL, JE; STOWENS, D1
BROMBACHER, PJ; DAMME, JP; HUIJING, F; PLOEM, JE; VANCREVELD, S1
Ohtake, A1
Brivet, M; Corriat, A; Lemonnier, A; Moatti, N; Odievre, M1
Freese, D1
Søvik, O; Vogt, H1
Iwańczak, F; Jagodzińska, M; Klinowska, W1
Kim, GH; Seo, EJ; Shin, YL; Yoo, HW1
Förster, H1
Sadeghi-Nejad, A; Senior, B1
Marks, V1
Bianchi, GP; Rossi, LN1
Chibisov, IV; Popova, IA; Rosenfield, EL1
Beyreiss, K1
Bartolozzi, G; Ferrando, M; Lavia, N; Ruffa, G; Sbolgi, P1
Barash, V; Branski, D; Elpeleg, ON; Hurvitz, H; Kerem, E; Mor, C; Reifen, RM; Ruitenbeek, W1
Miłoszewska, E; Pronicka, E; Rowińska, E1
Moses, SW1
Agam, G; Cohen, T; Deckelbaum, RJ; Gutman, A; Russell, A; Shapira, E1
Häger, A; Hallgren, P; Hansson, G; Henriksson, KG; Lundblad, A; Svensson, S1
Bierich, JR; Rager, K; Schönberg, D1
Hug, G; Schubert, WK1
Fernandes, J; Huijing, F1
Mukhopadhyay, D; Rennert, OM1
Caesar, K; Jeschke, D; Schollmeyer, P1
Fernandes, J; Huijing, F; van de Kamer, JH1
Domagk, GF; Zech, R1
Prochorow, M1
Jensen, BN; Kraft, M1
De Cicco, N; De Palma, A; Durante, M; Gabriele, S; Rolando, P; Rubino, A1
Lake, BD; McNamara, J; Norman, ME; Patrick, AD; Spencer-Peet, J1
Brunberg, JA; McCormick, WF; Schochet, SS1
Benedetti, A1
OEI, TL1
Edstrom, RD1
Girard, J; Herz, G1
Boisse, J1

Reviews

7 review(s) available for galactose and Glycogenosis

ArticleYear
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
    Journal of inherited metabolic disease, 2021, Volume: 44, Issue:1

    Topics: Adult; Cardiomyopathies; Cleft Palate; Consensus; Disease Management; Galactose; Glycogen Storage Disease; Humans; Hypoglycemia; Infant; International Cooperation; Muscular Diseases

2021
Inborn errors of carbohydrate metabolism.
    Best practice & research. Clinical gastroenterology, 2010, Volume: 24, Issue:5

    Topics: Adult; Child; Dietary Carbohydrates; Fructose Intolerance; Fructose Metabolism, Inborn Errors; Fructose-1,6-Diphosphatase Deficiency; Galactose; Galactosemias; Glycogen Storage Disease; Humans; Infant; Liver Diseases; Liver Transplantation; Prognosis

2010
[Inborn errors of carbohydrate metabolism].
    Ryoikibetsu shokogun shirizu, 2003, Issue:39

    Topics: Carbohydrate Metabolism, Inborn Errors; Fructose Metabolism, Inborn Errors; Galactose; Glycogen Storage Disease; Humans

2003
Intracellular cholestatic syndromes of infancy.
    Seminars in liver disease, 1982, Volume: 2, Issue:4

    Topics: Bacterial Infections; Bile Acids and Salts; Biopsy, Needle; Cholestasis, Intrahepatic; Fructose; Galactose; Glycogen Storage Disease; Hepatitis; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Liver; Metabolism, Inborn Errors; Prognosis; Syndrome; Tyrosine

1982
The glycogenoses and other inherited disorders of carbohydrate metabolism.
    Clinics in perinatology, 1976, Volume: 3, Issue:1

    Topics: 1,4-alpha-Glucan Branching Enzyme; Carbohydrate Metabolism, Inborn Errors; Fructose; Fructose Intolerance; Galactose; Glucokinase; Glycogen Storage Disease; Hexokinase; Humans; Infant, Newborn; Liver; Liver Glycogen; Phosphoglucomutase; Phosphorylases; Phosphotransferases; UTP-Glucose-1-Phosphate Uridylyltransferase; UTP-Hexose-1-Phosphate Uridylyltransferase

1976
[Clinical and pathobiochemical findings in genetic diseases of carbohydrate and lipid metabolism].
    Zentralblatt fur Pathologie, 1992, Volume: 138, Issue:3

    Topics: Carbohydrate Metabolism, Inborn Errors; Fructose; Galactose; Glycogen Storage Disease; Humans; Hyperlipoproteinemias; Lipid Metabolism, Inborn Errors; Sphingolipidoses

1992
[New etiologic approach to periodic ketoacidosis in children].
    Canadian Medical Association journal, 1971, Aug-07, Volume: 105, Issue:3

    Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Butyrates; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Dehydration; Diabetic Ketoacidosis; Female; Glycogen Storage Disease; Hexoses; Humans; Hydrogen-Ion Concentration; Hypoglycemia; Infant; Infant, Newborn; Ketone Bodies; Lactation Disorders; Lipid Metabolism, Inborn Errors; Maple Syrup Urine Disease; Methionine; Periodicity; Pregnancy; Propionates; Pyruvates; Vomiting

1971

Trials

1 trial(s) available for galactose and Glycogenosis

ArticleYear
Oral D-galactose supplementation in PGM1-CDG.
    Genetics in medicine : official journal of the American College of Medical Genetics, 2017, Volume: 19, Issue:11

    Topics: Administration, Oral; Adolescent; Blood Coagulation; Blood Glucose; Child; Child, Preschool; Creatine Kinase; Dose-Response Relationship, Drug; Female; Galactose; Glycogen Storage Disease; Glycoproteins; Humans; Infant; Male; Phosphoglucomutase; Pilot Projects; Prospective Studies; Skin; Transferrin; Young Adult

2017

Other Studies

46 other study(ies) available for galactose and Glycogenosis

ArticleYear
A new D-galactose treatment monitoring index for PGM1-CDG.
    Journal of inherited metabolic disease, 2021, Volume: 44, Issue:5

    Topics: Adult; Biomarkers; Child; Child, Preschool; Cohort Studies; Dose-Response Relationship, Drug; Drug Monitoring; Female; Galactose; Glycogen Storage Disease; Glycoproteins; Humans; Infant; Male; Mass Spectrometry; Phosphoglucomutase; Young Adult

2021
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.
    Translational research : the journal of laboratory and clinical medicine, 2018, Volume: 199

    Topics: Adolescent; Adult; Biomarkers; Child; Child, Preschool; Chromatography, High Pressure Liquid; Early Diagnosis; Female; Galactose; Glycogen Storage Disease; Glycosylation; Humans; Infant; Male; Mass Spectrometry; Middle Aged; Monitoring, Physiologic; Sensitivity and Specificity; Transferrin; Young Adult

2018
Multiple phenotypes in phosphoglucomutase 1 deficiency.
    The New England journal of medicine, 2014, Feb-06, Volume: 370, Issue:6

    Topics: Galactose; Genes, Recessive; Glucose; Glucosephosphates; Glycogen Storage Disease; Glycoproteins; Glycosylation; Humans; Male; Mutation; Phenotype; Phosphoglucomutase; RNA, Messenger

2014
PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose.
    Neuromuscular disorders : NMD, 2017, Volume: 27, Issue:4

    Topics: Exercise; Galactose; Glycogen Storage Disease; Humans; Male; Middle Aged

2017
Cirrhosis of the liver in infants and children.
    A.M.A. American journal of diseases of children, 1955, Volume: 90, Issue:3

    Topics: Bile Duct Diseases; Bile Ducts; Child; Disease; Galactose; Glycogen Storage Disease; Hemochromatosis; Hepatitis; Humans; Infant; Liver Cirrhosis; Pancreas; Pancreatic Diseases

1955
Galactose tolerance in glycogen storage disease.
    Pediatrics, 1957, Volume: 19, Issue:4 Pt 1

    Topics: Child; Galactose; Glycogen Storage Disease; Humans; Infant

1957
[Secondary disorders of the proximal tubulus; cystinosis, galactosemia, Wilson's pseudosclerosis & renal glycogenosis].
    Monatsschrift fur Kinderheilkunde, 1958, Volume: 106, Issue:3

    Topics: Cystinosis; Galactose; Galactosemias; Glycogen Storage Disease; Hepatolenticular Degeneration; Humans; Kidney; Kidney Diseases; Metabolic Diseases

1958
[Galactosemia and glycogen disease in children].
    Polski tygodnik lekarski, 1958, Nov-24, Volume: 13, Issue:47

    Topics: Galactose; Galactosemias; Glycogen; Glycogen Storage Disease

1958
[Galactose, glucagon, BZ 55 and thyroid in hepatic glycogenosis (Gierke's disease)].
    Minerva pediatrica, 1960, Aug-25, Volume: 12

    Topics: Carbutamide; Galactose; Glucagon; Glycogen Storage Disease; Glycogen Storage Disease Type I; Hormones; Humans; Thyroid Gland

1960
DIFFERENTIAL DIAGNOSIS OF THE TYPE OF GLYCOGEN DISEASE IN TWO ADULT PATIENTS WITH LONG HISTORY OF GLYCOGENOSIS.
    Metabolism: clinical and experimental, 1964, Volume: 13

    Topics: Adult; Blood Chemical Analysis; Blood Glucose; Cholesterol; Diagnosis, Differential; Erythrocytes; Galactose; Glucose; Glycerides; Glycogen; Glycogen Storage Disease; Histocytochemistry; Humans; Hyperglycemia; L-Lactate Dehydrogenase; Lactates; Leukocytes; Lipids; Liver Glycogen; Phosphorylase Kinase; Pyruvates

1964
[GLUCOSE, FRUCTOSE AND GALACTOSE IN THE DIET OF PATIENTS WITH GLYCOGEN ACCUMULATION DISEASE TYPE I].
    Maandschrift voor kindergeneeskunde, 1964, Volume: 32

    Topics: Blood Chemical Analysis; Carbohydrate Metabolism; Child; Diet; Dietary Carbohydrates; Fatty Acids; Fructose; Galactose; Glucose; Glucose Tolerance Test; Glucosephosphate Dehydrogenase Deficiency; Glucosephosphates; Glycogen Storage Disease; Humans; Lactates; Liver Glycogen; Starch

1964
LIVER GLYCOGEN DISEASE IN TWO GENERATIONS OF A FAMILY. CLINICAL STUDIES AND TISSUE ANALYSES DURING OVERT DISEASE AND AFTER APPARENT RECOVERY.
    The American journal of medicine, 1964, Volume: 36

    Topics: Adolescent; Biopsy; Electrocardiography; Epinephrine; Galactose; Genetics, Medical; Glucagon; Glycogen Storage Disease; Humans; Hyperglycemia; Infant; Liver; Liver Glycogen; Pathology

1964
A REPORT OF TWO ADULT PATIENTS WITH GLYCOGEN STORAGE DISEASE.
    Acta medica Scandinavica, 1964, Volume: 176

    Topics: Acetone; Adult; Blood Glucose; Carbohydrate Metabolism; Child; Epinephrine; Galactose; Glucagon; Glucosephosphate Dehydrogenase Deficiency; Glucosephosphates; Glycogen Storage Disease; Hepatomegaly; Humans; Liver Diseases; Uric Acid; Urine

1964
GLYCOGEN STORAGE DISEASE. BIOCHEMICAL AND CLINICAL DATA IN SIXTEEN CASES.
    The American journal of medicine, 1965, Volume: 38

    Topics: Biochemical Phenomena; Biochemistry; Blood; Blood Glucose; Child; Galactose; Glucosidases; Glycogen Storage Disease; Glycogen Storage Disease Type I; Hepatomegaly; Humans; Infant; Infant, Newborn; Lactates; Leukocytes; Liver; Liver Diseases; Liver Glycogen; Phosphotransferases

1965
Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome.
    Pediatric research, 1983, Volume: 17, Issue:2

    Topics: Child, Preschool; Erythrocytes; Fanconi Syndrome; Female; Galactose; Glucagon; Glucose; Glycogen Storage Disease; Glycolysis; Humans; In Vitro Techniques; Kidney; Liver; Liver Function Tests; Oxidation-Reduction

1983
[Glycogenoses. Diagnosis and classification].
    Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1980, Feb-10, Volume: 100, Issue:4

    Topics: Child, Preschool; Female; Galactose; Glucagon; Glucose Tolerance Test; Glycogen; Glycogen Storage Disease; Humans; Infant; Lactates; Male

1980
[Coexistence of liver glycogenosis, Fanconi's syndrome and abnormal galactose metabolism in a 3-year-old child].
    Polski tygodnik lekarski (Warsaw, Poland : 1960), 1980, Dec-29, Volume: 35, Issue:52

    Topics: Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Fanconi Syndrome; Galactose; Glycogen Storage Disease; Humans; Liver Diseases; Liver Glycogen; Male

1980
Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia.
    European journal of pediatrics, 2002, Volume: 161, Issue:6

    Topics: Diabetes Mellitus; Fanconi Syndrome; Galactose; Gene Expression Regulation; Glucose Transporter Type 2; Glycogen Storage Disease; Humans; Infant; Liver; Monosaccharide Transport Proteins; Mutation

2002
[Hypoglycemia. 3. Hypoglycemias caused by defined metabolic defects; hormonal regulation of blood glucose concentration and its disorders].
    Fortschritte der Medizin, 1976, Feb-12, Volume: 94, Issue:5

    Topics: Fructose-1,6-Diphosphatase Deficiency; Galactose; Gluconeogenesis; Glucosephosphate Dehydrogenase Deficiency; Glycogen; Glycogen Storage Disease; Glycoside Hydrolases; Humans; Hyperinsulinism; Hypoglycemia; Hypothyroidism; Insulin; Lactates; Leucine; Parathyroid Hormone; Phosphorylases; Pyruvate Carboxylase Deficiency Disease

1976
Alcohol and carbohydrate metabolism.
    Clinics in endocrinology and metabolism, 1978, Volume: 7, Issue:2

    Topics: Alcoholism; Blood Glucose; Carbohydrate Metabolism; Diabetes Mellitus; Ethanol; Fructose; Galactose; Glycogen Storage Disease; Humans; Hypoglycemia; Insulin

1978
[A case of glycogenosis of type VI with associated de Toni-Debré-Fanconi syndromei1].
    Minerva pediatrica, 1975, Jun-23, Volume: 27, Issue:22

    Topics: Biopsy; Fanconi Syndrome; Galactose; Glucagon; Glucose Tolerance Test; Glycogen Storage Disease; Glycogen Storage Disease Type VI; Humans; Infant; Liver; Liver Function Tests; Male

1975
Some cases of Type III glycogen storage disease.
    Clinica chimica acta; international journal of clinical chemistry, 1976, Mar-01, Volume: 67, Issue:2

    Topics: Blood Glucose; Child; Child, Preschool; Erythrocytes; Female; Galactose; Glucose Tolerance Test; Glucosyltransferases; Glycogen; Glycogen Debranching Enzyme System; Glycogen Storage Disease; Glycogen Storage Disease Type I; Glycogen Storage Disease Type III; Humans; Hypoglycemia; Lactates; Liver; Male; Phosphorylases

1976
[The Fanconi-Bickel syndrome: one more case].
    Minerva pediatrica, 1992, Volume: 44, Issue:6

    Topics: Child, Preschool; Cystinosis; Fanconi Syndrome; Galactose; Glycogen Storage Disease; Humans; Liver Glycogen; Male

1992
Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy.
    European journal of pediatrics, 1989, Volume: 149, Issue:1

    Topics: Child, Preschool; Fanconi Syndrome; Galactose; Glycogen Storage Disease; Humans; Male; Mitochondria, Heart

1989
Tubular function of kidney after galactose loading in two patients with glycogen storage disease type XL.
    Journal of inherited metabolic disease, 1987, Volume: 10, Issue:3

    Topics: Adolescent; Adult; Bicarbonates; Fanconi Syndrome; Galactose; Galactosemias; Glycogen Storage Disease; Humans; Hyperlipidemias; Kidney Tubules; Male; Phosphates; Uric Acid

1987
An unusual case of glycogen storage disease.
    Advances in experimental medicine and biology, 1973, Volume: 41

    Topics: Alanine Transaminase; Allopurinol; Aspartate Aminotransferases; Blood Glucose; Carbon Radioisotopes; Child; Cholesterol; Epinephrine; Fasting; Fatty Acids, Nonesterified; Female; Galactose; Glucagon; Glucose-6-Phosphatase; Glucosidases; Glycerol; Glycogen; Glycogen Storage Disease; Humans; Lactates; Leukocytes; Male; Phosphorylases; Time Factors; Tritium; Uric Acid

1973
Type 3 glycogenosis: atypical enzyme activities in blood cells in two siblings.
    The Journal of pediatrics, 1972, Volume: 81, Issue:5

    Topics: Autoradiography; Blood Glucose; Carbon Isotopes; Erythrocytes; Female; Galactose; Glucagon; Glucosidases; Glycogen; Glycogen Storage Disease; Humans; Infant; Leukocytes; Liver; Liver Diseases; Male; Muscles; Pedigree; Syndrome; Transferases

1972
[Diagnosis of glycogenosis].
    Padiatrie und Padologie, 1973, Volume: 8, Issue:1

    Topics: Diagnosis, Differential; Galactose; Glucagon; Glucose; Glucose Tolerance Test; Glucosidases; Glycogen Storage Disease; Glycogen Storage Disease Type I; Humans; Infant; Liver Diseases; Male

1973
Increased excretion of a glucose-containing tetrasaccharide in the urine of a patient with glycogen storage disease type II (Pompe's disease).
    European journal of clinical investigation, 1974, Dec-05, Volume: 4, Issue:6

    Topics: Adult; Cardiomyopathies; Chemical Phenomena; Chemistry; Child; Chromatography, Gel; Chromatography, Paper; Electrophoresis; Fucose; Galactose; Glucose; Glucosidases; Glycogen Storage Disease; Humans; Male; Mannose; Methylation; Oligosaccharides; Optical Rotation; Syndrome; Ultrafiltration

1974
Endocrinological findings in patients with glycogenosis.
    Acta endocrinologica. Supplementum, 1973, Volume: 173

    Topics: Blood Glucose; Fatty Acids, Nonesterified; Galactose; Glucagon; Glucosidases; Glycogen Storage Disease; Glycogen Storage Disease Type I; Growth Hormone; Humans; Hydrocortisone; Insulin

1973
Serum insulin in type I glycogenosis. Effect of galactose or fructose administration.
    Diabetes, 1967, Volume: 16, Issue:11

    Topics: Adolescent; Child; Fructose; Galactose; Glucose Tolerance Test; Glucosephosphate Dehydrogenase Deficiency; Glycogen Storage Disease; Humans; Infusions, Parenteral; Injections, Intravenous; Insulin; Liver; Liver Glycogen; Male; Secretory Rate

1967
Branching enzyme-deficiency glycogenosis: studies in therapy.
    Archives of disease in childhood, 1968, Volume: 43, Issue:229

    Topics: Adult; Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Diet Therapy; Female; Fructose; Galactose; Glucagon; Glucose Tolerance Test; Glucosidases; Glycogen; Glycogen Storage Disease; Glycoside Hydrolases; Humans; Infant; Leukocytes; Liver Glycogen; Male; Zinc

1968
Diazoxide in von Gierke's disease.
    Archives of disease in childhood, 1968, Volume: 43, Issue:229

    Topics: Animals; Blood Glucose; Carbohydrate Metabolism, Inborn Errors; Child; Diazoxide; Dogs; Galactose; Glucose; Glucose Tolerance Test; Glycogen Storage Disease; Glycogen Storage Disease Type I; Hirsutism; Humans; Infant; Liver Glycogen; Male; Rats

1968
Hexose and protein tolerance tests in children with liver glycogenosis caused by a deficiency of the debranching enzyme system.
    Pediatrics, 1968, Volume: 41, Issue:5

    Topics: Child; Female; Fructose; Galactose; Gluconeogenesis; Glucose; Glucose Tolerance Test; Glucosidases; Glycogen Storage Disease; Humans; Infant; Lactates; Liver Glycogen; Male

1968
[Familial cardiomegaly with glycogen storage].
    Deutsche medizinische Wochenschrift (1946), 1969, May-09, Volume: 94, Issue:19

    Topics: Adult; Cardiac Catheterization; Cardiomyopathies; Electrocardiography; Fatty Acids, Nonesterified; Female; Galactose; Glycogen; Glycogen Storage Disease; Humans; Lactates; Liver Glycogen; Male; Middle Aged; Muscles; Myocardium; Oxygen Consumption; Pedigree; Pyruvates; Radiography

1969
A screening method for liver glycogen diseases.
    Archives of disease in childhood, 1969, Volume: 44, Issue:235

    Topics: Adolescent; Biological Assay; Child; Child, Preschool; Clinical Enzyme Tests; Female; Fructose; Galactose; Glucagon; Glucose Tolerance Test; Glucosyltransferases; Glycogen Storage Disease; Glycogen Storage Disease Type I; Humans; Infant; Liver Diseases; Liver Function Tests; Male; Mass Screening

1969
[Intermediate metabolism of carbohydrates. New knowledge and its medical significance].
    Hippokrates, 1967, May-15, Volume: 38, Issue:9

    Topics: Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Enzymes; Fructose; Galactose; Glycogen; Glycogen Storage Disease; Hormones; Humans

1967
[Metabolism of galactose in children].
    Annales Academiae Medicae Stetinensis, 1969, Volume: 15

    Topics: Adolescent; Animals; Cerebral Hemorrhage; Child; Child, Preschool; Diabetes Mellitus, Type 1; Female; Galactose; Galactosemias; Glycogen Storage Disease; Humans; Hypothyroidism; Infant; Infant, Newborn; Lactose; Male; Milk

1969
Glycogenosis with reduced activity of leukocyte phosphorylase. A survey and a case.
    Danish medical bulletin, 1970, Volume: 17, Issue:1

    Topics: Biopsy; Child; Child, Preschool; Female; Galactose; Glucagon; Glucose Tolerance Test; Glucosyltransferases; Glycogen Storage Disease; Humans; Infant; Leukocytes; Liver Glycogen; Male

1970
[New possibilities of diagnosis and trial therapy of glycogenosis of type I].
    La Pediatria, 1969, Volume: 77, Issue:3

    Topics: Fructose; Galactose; Glucagon; Glucose Tolerance Test; Glucosephosphate Dehydrogenase Deficiency; Glycogen Storage Disease; Humans; Infant; Lactates; Liver; Male; Phenobarbital

1969
Hepatic glycogen storage disease. Clinical and laboratory findings in 23 cases.
    The Quarterly journal of medicine, 1971, Volume: 40, Issue:157

    Topics: Child; Child, Preschool; Diazoxide; Diet Therapy; Female; Fructose; Galactose; Glucose Tolerance Test; Glucosephosphate Dehydrogenase Deficiency; Glucosidases; Glucosyltransferases; Glycogen Storage Disease; Hepatomegaly; Histocytochemistry; Humans; Hypoglycemia; Infant; Liver; Liver Glycogen; Male; Muscles

1971
Type 3 glycogenosis. An adult with diffuse weakness and muscle wasting.
    Archives of neurology, 1971, Volume: 25, Issue:2

    Topics: Adult; Aspartate Aminotransferases; Blood Glucose; Creatine Kinase; Electromyography; Epinephrine; Fructose-Bisphosphate Aldolase; Galactose; Glucagon; Glucose Tolerance Test; Glucosidases; Glycogen Storage Disease; Humans; L-Lactate Dehydrogenase; Liver Glycogen; Male; Muscles; Muscular Diseases

1971
THe glucagon plus galactose tolerance test. A preliminary report.
    Acta isotopica, 1970, Volume: 10, Issue:3

    Topics: Adolescent; Adult; Blood Glucose; Carbohydrate Metabolism; Diabetes Mellitus; Galactose; Glucagon; Glucose Tolerance Test; Glycogen Storage Disease; Humans; Hyperglycemia; Liver; Liver Diseases; Middle Aged

1970
Hexose monophosphate, pyruvate and lactate in the peripheral blood in glycogen-storage disease type I.
    Clinica chimica acta; international journal of clinical chemistry, 1962, Volume: 7

    Topics: Glycogen; Glycogen Storage Disease; Hexosephosphates; Hexoses; Humans; Lactates; Lactic Acid; Pyruvates; Pyruvic Acid

1962
Structure of a low molecular weight form of glycogen isolated from the liver in a case of glycogen storage disease.
    The Journal of biological chemistry, 1972, Mar-10, Volume: 247, Issue:5

    Topics: Amylases; Borohydrides; Chromatography, Paper; Drug Stability; Electrophoresis, Paper; Glucosyltransferases; Glycogen Storage Disease; Glycoside Hydrolases; Half-Life; Hexoses; Humans; Iodine; Kidney; Liver; Liver Glycogen; Mathematics; Molecular Weight; Myocardium; Osmotic Pressure; Oxidation-Reduction; Periodic Acid; Polysaccharides; Potassium Iodide; Spectrophotometry; Tritium

1972
Some aspects of hypoglycemia in pediatrics.
    Israel journal of medical sciences, 1972, Volume: 8, Issue:6

    Topics: Acids; Age Factors; Brain Chemistry; Carbohydrate Metabolism, Inborn Errors; Glutamine; Glycogen Storage Disease; Hexoses; Humans; Hypoglycemia; Infant, Newborn; Infant, Newborn, Diseases; Injections, Intravenous; Insulin; Mannose

1972